RNU2-2P

RNA, U2 small nuclear 2, pseudogene
Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber RNU2-2P in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 119, OMIM:621304 Tags new-gene-name locus-type-rna-small-nuclear
Green RNU2-2P in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation complex neurodevelopmental disorder, MONDO:0100038 Developmental and epileptic encephalopathy 119, OMIM:621304 Tags new-gene-name
Green RNU2-2P in Early onset or syndromic epilepsy Level 2: Neurology Version 8.159 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 119, OMIM:621304 Tags new-gene-name locus-type-rna-small-nuclear
Green RNU2-2P in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 119, OMIM:621304 Tags new-gene-name locus-type-rna-small-nuclear